SOPHiA GENETICS Launches New Deep Learning Capabilities to Support the Detection of Homologous Recombination Deficiencies
BOSTON and LAUSANNE, Switzerland: SOPHiA GENETICS (Nasdaq: SOPH), a leader in Data-Driven Medicine, announced today the launch of their SOPHiA DDM Homologous Recombination Deficiency (HRD) Solution, opening new doors for cancer research. The application provides a unique approach for molecular cancer testing by combining the identification of HRD-causing mutations with the analysis of HRD-induced genomic instability across the whole genome of tumor samples.
HRD is caused by a cell's impaired ability to repair DNA double-stranded breaks through the homologous recombination repair (HRR) pathway and is linked with the development of certain cancers. It is also an important predictor of tumor response to treatment with PARP inhibitors. Molecular testing of tumor samples using SOPHiA DDM enables simultaneous detection of both HRR mutations that can cause HRD, including those in the BRCA1 and BRCA2 genes, and the accumulated damage to genomic integrity that can result from them, using shallow whole-genome Next Generation Sequencing.
SOPHiA GENETICS is collaborating with AstraZeneca, aiming to expand access to in-house HRD testing across European laboratories and institutions. "Providing laboratories with innovative solutions to enable locally-delivered HRD testing is critically important, particularly in settings such as advanced ovarian cancer, where approximately half of all newly diagnosed patients have HRD-positive tumors," said Kristina Rodnikova, SVP Global Oncology Diagnostics at AstraZeneca. "We are pleased to work with SOPHiA GENETICS in their mission to empower their laboratory customers and increase the range of options available for HRD detection."
To combat current challenges with HRD detection offerings, the SOPHiA DDM HRD Solution provides laboratories and institutions with a decentralized approach to HRD testing for tumor samples. The SOPHiA DDM HRD Solution allows the user to retain full ownership of their data and save time and expenses, while also offering comprehensive genomic insights powered by deep learning algorithms.
"We at SOPHiA GENETICS have always been on a mission to improve health outcomes by advancing data-driven medicine, which is why I am extremely excited to announce the launch of our new HRD research solution," said Dr. Jurgi Camblong, Co-founder and CEO of SOPHiA GENETICS. "Our SOPHiA DDM HRD Solution will provide researchers and other healthcare professionals with a decentralized approach to fully integrated HRD testing, enabling the HRD status of more advanced ovarian cancer cases to be determined without reliance on send-out testing solutions."
